Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case reportReport as inadecuate

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Journal of Medical Case Reports

, 6:102

First Online: 05 April 2012Received: 14 October 2011Accepted: 05 April 2012DOI: 10.1186-1752-1947-6-102

Cite this article as: Pemmaraju, N., Hamilton, J.P., Cameron, A.M. et al. J Med Case Reports 2012 6: 102. doi:10.1186-1752-1947-6-102


IntroductionAn unprovoked thombotic event in a patient is cause for further evaluation of an underlying hypercoaguable state. The investigation should include a thorough search, including checking for a variety of known inherited and acquired hypercoaguble states protein C or S deficiency, anti-phospholipid antibodies, and anti-thrombin III deficiency and gene mutations that predispose patients to an increased risk of clotting for example, prothrombin gene 20210 mutation, factor V Leiden, and the JAK2 V617F mutation.

Case presentationWe report the case of a 38-year-old Caucasian woman with spontaneous, unprovoked abdominal venous thrombosis and demonstrate how testing for the JAK2 V617F mutation was useful in unmasking an underlying hypercoaguable state.

ConclusionsJAK2 V617F-positive myeloproliferative neoplasm was diagnosed. This case illustrates the importance of testing for JAK2 V617F in patients presenting with Budd-Chiari syndrome, even in the absence of overt hematologic abnormalities, in order to establish a diagnosis of underlying myeloproliferative neoplasm.

AbbreviationsBCSBudd-Chiari syndrome

CTcomputed tomography

ECendothelial cell

ETessential thrombocytosis

GGTgamma glutamyl transferase

MPNmyeloproliferative neoplasm

PMFprimary myelofibrosis

PVpolycythemia vera

TIPStransjugular intrahepatic porto-systemic shunt.

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Author: Naveen Pemmaraju - James Peter Hamilton - Andrew M Cameron - Stephen Sisson - Alison R Moliterno

Source: https://link.springer.com/

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